Naimah Frith may not be the only sufferer of Marfan syndrome in Bermuda — but she believes she is one of just a handful.

The 17-year-old was diagnosed with the life-threatening and rare disorder aged just two and has since had to grapple with a series of physical challenges and medical examinations.

But the disorder hasn’t stopped her excelling in and out of school: she is deputy head girl of CedarBridge Academy, a member of Bermuda Youth Parliament, a candy striper at King Edward VII Memorial Hospital, a Girl Guide and an active member of her church, Cornerstone Bible Fellowship.

“I don’t want it to define who I am and what I can and can’t do,” she told The Royal Gazette. “I’m very adjusted to it but it does present challenges to me, especially because I feel so isolated on different levels.”

Naimah spoke to this newspaper about her condition to publicise the fact that February is Marfan Awareness Month.

She and her mother Martha recently became volunteers for the US-based Marfan Foundation and they want to make everyone on the Island aware of the disorder — and potentially help those who may not realise they have Marfan’s to recognise the signs.

“I have never spoken publicly about it,” said Naimah. “I think this is a good time for me to speak about it because I think more people should know about it and it could possibly save someone’s life.”

Mrs Frith said: “We really want to promote awareness. It’s a very little known syndrome. We want people to be aware. We certainly don’t know of very many other people that have it.”

Marfan syndrome is a genetic connective tissue disorder, which affects the skeleton, eyes, lungs and, especially, the heart. Naimah inherited it from her father Patrick, who died in 2012, aged 49.

Some of the more visible signs of the disorder are a tall and thin body, a curved spine, a chest that is sunken or sticks out, flexible joints, flat feet, crowded teeth and unexplained stretch marks.

“I could see when she was born that she had Marfan’s,” said Mrs Frith, of her daughter. “She has these very long fingers, she’s very limber. She has stretch marks on her body. Her arm span is greater than her height.”

Naimah said she wasn’t really aware she had the disorder while at primary school but the physical features became more obvious as she grew older.

“I have flat feet so that’s always been a problem for me, finding shoes that won’t show my flat-footedness or shoes that are strong enough because my feet will eventually wear out my shoes really quickly.

“Occasionally, I do have chest pain and it’s very uncomfortable. It feels like a knife. It’s a very striking pain. It’s not like I’m doing exercise and it happens — it just happens. I’ll just have random arm pain, muscle spasms, random pains in general and particularly my heart.”

Marfan sufferers are not able to do excessive exercise — and Naimah says she has struggled with that over the years, even taking up basketball at one point, just to prove to herself she could do it.

Other physical aspects of the disorder have made her self-conscious, though she says she has never really been teased about it at school.

The teenager was 5ft 10in the last time she was measured — and she is still growing. “A lot of people say ‘you are so tall and so slender’,” she said. “But it’s not so great. I was always taller than everyone in my class and taller than all the boys.

“Shopping for clothes is difficult. I have a short torso but my legs are really long. To find pants that come down to my ankles, it’s really difficult.

“When I became a teenager, my other problem became my sunken-in chest. It’s really difficult to hide. For me, it felt more noticeable and a problem. That was a problem for me to get over it and own it, I guess, and work around it.”

Naimah said one of her biggest challenges was living in a small place where there is no specific medical expertise about the disorder. She stressed that doctors here have helped her a lot but most have never treated another patient with Marfan’s, so have little experience.

“I don’t feel that the doctors in Bermuda really know about it,” she said. “I have been to the hospital before for chest pain and they would say ‘just go and get some rest’. I’m not putting them down but because it’s so little known it’s difficult to find people who know exactly what’s going on.

“[It’s] just not having the medical expertise around me, because it’s not so well-known.”

She and her mother plan to screen a film about Marfan’s next month at Bermuda College and they hope the medical community, as well as the general public, will come to watch it.

Fiona Ross, chief of family medicine at King Edward VII Memorial Hospital, will answer questions after the film, along with a panel of other physicians.

Naimah said since her father died she really didn’t have “anybody to connect to” about the disorder. “I mean, my friends don’t understand. I’m not a very severe case. They don’t really see me having any special disability but I do have issues, like pain.”

One of the key aspects of managing Marfan’s is regular cardiograms, as the disorder can affect the aorta, the large blood vessel that carries blood away from the heart to the rest of the body.

Naimah has a heart valve abnormality and her annual chest examinations are one of her least favourite things. “I have to take off my shirt and be exposed to this echo and they go over your heart.

“I don’t like being so exposed to that. I haven’t gotten used to it. It’s not new to me but it’s hard having to go back and get those echo cardiograms when you are only 17.”

Her mother said: “It’s difficult but we just always keep a close eye on her and I still do, particularly now her father has passed. It’s always in the back of my mind if she has a pain. We write down all symptoms.

“Back pain is a sign that something could be seriously wrong. If she has back pain, I tend to worry. Now that science and treatment has gotten so advanced, people can live to 80 or 90, but the key is to keep going back and checking.”

Naimah is focusing on the future. She plans to attend Bermuda College in September and go to university in Canada the following year. She loves art, drawing and design and may become an art teacher, though she’s also considering studying veterinary science.

She and her mother will attend their first Marfan conference at Johns Hopkins University later this year and Naimah is looking forward to meeting others who understand what she goes through each day. “It’s such an isolating feeling being here.”

• ‘In My Hands’, a film about Marfan syndrome, will be shown at Bermuda College Library at 6pm on Thursday, March 6.